First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay

Author:

Ben-Yoseph Yoav,Mitchell Deborah A.,Nadler Henry L.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Thermal activation of hexosaminidase A in a genetic compound with Tay-Sachs disease;Ben-Yoseph;J. Inherited Metab. Dis.,1983

2. Radiometric assays of N-acetylglucosa-minilphosphotransferase and α-N-acetyl-glucosaminyl phosphodiesterase with substrates labeled in the glucosamine moiety;Ben-Yoseph;Anal. Bio-chem.,1984

3. Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of β-N-acetylglucosamine-6-sulfate and β-N-acetylgalactosamine-6-sulfate;Ben-Yoseph;Am. J. Hum. Genet.,1985

4. Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies;Ben-Yoseph;Enzyme,1986a

5. Lysosomal enzyme activities in fresh and frozen chorionic villi and in cultured trophoblasts;Ben-Yoseph;Clin. Chim. Acta.,1986b

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